Clinical and molecular characterization of a patient with <i>MBTPS1</i> related spondyloepiphyseal dysplasia: Evidence of pathogenicity for a synonymous variant.

Yuan, Yeqing; Zhou, Qiaoli; Wang, Chunli; Zhou, Wei; Gu, Wei; Zheng, Bixia

Clinical and molecular characterization of a patient with MBTPS1 related spondyloepiphyseal dysplasia: Evidence of pathogenicity for a synonymous variant.

Yuan, Yeqing; Zhou, Qiaoli; Wang, Chunli; Zhou, Wei; Gu, Wei; Zheng, Bixia.

Afiliação

Yuan Y; Department of Endocrinology, Children's Hospital of Nanjing Medical University, Nanjing, China.
Zhou Q; Department of Endocrinology, Children's Hospital of Nanjing Medical University, Nanjing, China.
Wang C; Nanjing Key Laboratory of Pediatrics, Children's Hospital of Nanjing Medical University, Nanjing, China.
Zhou W; Nanjing Key Laboratory of Pediatrics, Children's Hospital of Nanjing Medical University, Nanjing, China.
Gu W; Department of Endocrinology, Children's Hospital of Nanjing Medical University, Nanjing, China.
Zheng B; Nanjing Key Laboratory of Pediatrics, Children's Hospital of Nanjing Medical University, Nanjing, China.

Front Pediatr ; 10: 1056141, 2022.

Article em En | MEDLINE | ID: mdl-36714646